B2MCystatin

 

Mutations in Cystatin 3 (Cystatin C) Gene (CST3) MIM *604312
 
NCBI Reference Sequences:
 
Location: 20p11.21  
Protein: ACCESSION NP_000090.1
mRNA: ACCESSION NM_000099.3
Genomic DNA: ACCESSION NG_012887.2
 
CST3 - exons 1 to 3 1 mutation associated with amyloidosis
 
cDNA No.
 
1
ATG
GCC
GGG
CCC
CTG
CGC
GCC
CCG
CTG
CTC
CTG
CTG
GCC
M
A
G
P
L
R
A
P
L
L
L
L
A
40
ATC
CTG
GCC
GTG
GCC
CTG
GCC
GTG
AGC
CCC
GCG
GCC
GGC
I
L
A
V
A
L
A
V
S
P
A
A
G
79
TCC
AGT
CCC
GGC
AAG
CCG
CCG
CGC
CTG 
GTG
GGA
GGC
CCC
S
S
P
G
K
P
P
R
L
V
G
G
P
118
ATG 
GAC
GCC
AGC
GTG
GGC
GAG
GAG
GGT
GTG
CGG
CTG
GCA
M
D
A
S
V
E
E
E
G
V
R
R
A
157
CTG
GAC
TTT
GCC
GTC
GGC
GAG
TAC
AAC
AAA
GCC
AGC
AAC
L
D
F
A
V
G
E
Y
N
K
A
S
N
196
GAC
ATG
TAC
CAC
AGC
CGC
GCG
CTG
CAG
GTG
GTG
CGC
GCC
D
M
Y
H
S
R
A
L
Q
V
V
R
A
235
CGC
AAG
CAG
ATC
GTA
CCT
GGG
GTG
AAC
TAC
TTC
TTG
GAC
R
K
Q
I
V
A
G
V
N
Y
F
L
D
A
274
GTG
GAG
CTG
GGC
CGA
ACC
ACG
TGT
ACC
AAG
ACC
CAG
CCC
 
V
E
G
R
T
T
C
T
K
T
Q
P
                           
313
AAC
TTG
GAC
AAC
TGC
CCC
TTC
CAT
GAC
CAG
CCA
CAT
CTG
 
N
L
D
N
C
P
F
H
D
Q
P
H
L
                           
352
AAA
AGG
AAA
GCA
TTC
TGC
TCT
TTC
CAG
ATC
TAC
GCT
GTG
 
K
R
K
A
F
C
S
F
Q
I
Y
A
V
                           
391
CCT
TGG
CAG
GGC
ACA
ATG
ACC
TTG
TCG
AAA
TCC
ACC
TGT
 
P
W
Q
G
T
M
T
L
S
K
S
T
C
                           
430
CAG
GAC
GCC
TAG
                  
 
Q
D
A
Stop